Title : A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.

Pub. Date : 2008 Oct

PMID : 18478038






1 Functional Relationships(s)
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1 In an in vivo assay of flux through this metabolic pathway using dermal fibroblasts obtained from an affected individual, proline and ornithine biosynthetic activity of P5CS was not affected by the H784Y substitution. Proline aldehyde dehydrogenase 18 family member A1 Homo sapiens